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  Chiari I malformation in a Waardenburg phenotype with multiple malformations and 1q21.1 microdeletion

  Agostino Berio, Gian Luigi Mariottini, Marco Frascio, Enrico Calcagno, Giacomo Garlaschi, Giuseppe Mangiante, Attilia Piazzi

  2021-01-13

  Published: January 13, 2021

  597

  PDF: 319
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  Kearns-Sayre syndrome with optic nerve atrophy phenotype: A possible biological and clinical concurrence of two mutations?

  Agostino Berio, Gian Luigi Mariottini, Marco Frascio, Attilia Piazzi

  2022-03-01

  Published: March 1, 2022

  1222

  PDF: 290